PMID- 3963768
OWN - NLM
STAT- MEDLINE
DCOM- 19860428
LR  - 20061115
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 19
IP  - 3
DP  - 1986 Mar
TI  - Abnormal platelet glutamate dehydrogenase activity and activation in dominant and 
      nondominant olivopontocerebellar atrophy.
PG  - 239-45
AB  - Glutamate dehydrogenase (GDH) activity and its allosteric modulation by purine 
      nucleotides were studied in platelet preparations from 4 patients with a 
      nondominant form of adult-onset olivopontocerebellar atrophy (OPCA) and in 
      affected and nonaffected members of two families with a dominant form of OPCA. A 
      partial deficiency of GDH activity (40 to 50% of control values) was present in 3 
      patients with nondominant OPCA and in 2 patients, father and son, with a dominant 
      form of OPCA. Platelet GDH from these patients and controls was regularly 
      inactivated by 2 mM guanosine-5'-triphosphate (GTP) and simulated one- to twofold 
      by 2 mM adenosine-5'-diphosphate (ADP). In the presence of 0.2% Triton X-100, the 
      activating effect of ADP was enhanced four- to sixfold. The partial deficiency in 
      maximum catalytic activity observed in these patients persisted under all 
      conditions used for enzyme assay. In affected members, but not in one unaffected 
      member of another family with a dominant type of OPCA, GDH activity was in the 
      control range but was not activated by ADP in either the presence or absence of 
      Triton. These results suggest that there may be at least two possible alterations 
      of GDH in patients with OPCA: one which decreases the maximum catalytic activity 
      and one which impairs the regulatory properties of the enzyme. Furthermore, this 
      study suggests that platelet GDH determination in patients with OPCA may provide 
      a simple and useful tool to classify these disorders and to understand the basic 
      pathophysiological mechanisms involved.
FAU - Sorbi, S
AU  - Sorbi S
FAU - Tonini, S
AU  - Tonini S
FAU - Giannini, E
AU  - Giannini E
FAU - Piacentini, S
AU  - Piacentini S
FAU - Marini, P
AU  - Marini P
FAU - Amaducci, L
AU  - Amaducci L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - EC 1.4.1.2 (Glutamate Dehydrogenase)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Atrophy
MH  - Blood Platelets/*enzymology
MH  - Brain Diseases/enzymology/genetics/pathology
MH  - Cerebellar Diseases/*enzymology/genetics/pathology
MH  - Enzyme Activation
MH  - Female
MH  - *Genes, Dominant
MH  - Genes, Recessive
MH  - Glutamate Dehydrogenase/*metabolism
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - *Olivary Nucleus
MH  - *Pons
EDAT- 1986/03/01 00:00
MHDA- 1986/03/01 00:01
CRDT- 1986/03/01 00:00
PHST- 1986/03/01 00:00 [pubmed]
PHST- 1986/03/01 00:01 [medline]
PHST- 1986/03/01 00:00 [entrez]
AID - 10.1002/ana.410190304 [doi]
PST - ppublish
SO  - Ann Neurol. 1986 Mar;19(3):239-45. doi: 10.1002/ana.410190304.